Earlier detection of Aicardi–Goutières syndrome in newborns
Project 2: Improved Presymptomatic Diagnosis in Aicardi Goutieres Syndrome
New newborn bloodspot tests aim to find Aicardi–Goutières syndrome before symptoms start in babies.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11172780 on NIH RePORTER |
What this research studies
Younger babies with Aicardi–Goutières syndrome often only get a diagnosis after neurologic decline, so researchers will look at stored newborn screening bloodspot cards to find early signs. First they will test a panel of interferon-related proteins using available antibody immunoassays on card punches to pick the best protein marker for a first-tier screen. Next they will study interferon-signaling gene patterns in the same newborn cards as a second-tier screen to improve specificity. The goal is to use retrospective samples from affected children and controls to build a screening approach that could be applied to newborn screening programs.
Who could benefit from this research
Good fit: Ideal candidates are newborns or infants with Aicardi–Goutières syndrome or individuals whose retained newborn screening bloodspot cards can be shared for analysis.
Not a fit: People without AGS, those with non–interferon-driven conditions, or patients who already have irreversible neurologic injury are unlikely to gain direct benefit from this screening effort.
Why it matters
Potential benefit: If successful, this could allow diagnosis before neurologic damage and earlier treatment (for example with JAK inhibitors) to improve outcomes.
How similar studies have performed: Previous research has shown interferon-related biomarkers and the benefit of JAK inhibitors in AGS, but applying protein and gene signatures to newborn screening cards is a novel approach that is not yet widely validated.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Adang, Laura Ann — Children's Hosp of Philadelphia
- Study coordinator: Adang, Laura Ann
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.